Variant report

Variant	rs57092179
Chromosome Location	chr8:20133227-20133228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU5F1	chr8:20132964-20133370	H1-hESC	embryonic stem cell:	n/a	chr8:20133218-20133232 chr8:20133217-20133231 chr8:20133217-20133231 chr8:20133217-20133231
2	SIN3A	chr8:20133095-20133381	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr8:20133189-20133493	H1-hESC	embryonic stem cell:	n/a	chr8:20133362-20133373 chr8:20133363-20133372
4	JUND	chr8:20133092-20133292	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr8:20133132-20133283	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr8:20133115-20133267	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFK	chr8:20133127-20133285	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr8:20133150-20133528	H1-hESC	embryonic stem cell:	n/a	chr8:20133364-20133373 chr8:20133361-20133374 chr8:20133363-20133372 chr8:20133362-20133371 chr8:20133363-20133372
9	BHLHE40	chr8:20133215-20133514	K562	blood:	n/a	chr8:20133364-20133373 chr8:20133361-20133374 chr8:20133363-20133372 chr8:20133362-20133371 chr8:20133363-20133372
10	ZNF143	chr8:20133101-20133333	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr8:20133078-20133261	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr8:20133183-20133395	H1-hESC	embryonic stem cell:	n/a	chr8:20133364-20133373 chr8:20133361-20133374 chr8:20133363-20133372 chr8:20133361-20133372 chr8:20133362-20133371 chr8:20133363-20133372

Variant related genes	Relation type
LZTS1-AS1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11985274	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995187	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542827	0.85[AMR][1000 genomes]
rs56256118	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60124846	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60828034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499971	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62499972	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62499973	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62499974	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499975	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499976	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62499980	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499981	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62499982	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20126600-20135200	Weak transcription	Right Ventricle	heart
2	chr8:20126600-20136200	Enhancers	Fetal Thymus	thymus
3	chr8:20126800-20135200	Weak transcription	Lung	lung
4	chr8:20126800-20135200	Weak transcription	Right Atrium	heart
5	chr8:20126800-20135400	Weak transcription	Left Ventricle	heart
6	chr8:20127600-20134400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:20129600-20133400	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:20129600-20135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:20129600-20137800	Weak transcription	Fetal Intestine Large	intestine
10	chr8:20129600-20139400	Weak transcription	NH-A	brain
11	chr8:20129800-20136400	Enhancers	NHDF-Ad	bronchial
12	chr8:20130400-20135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:20131000-20135000	Weak transcription	Fetal Brain Female	brain
14	chr8:20131000-20135200	Weak transcription	Spleen	Spleen
15	chr8:20131000-20135400	Weak transcription	Brain Anterior Caudate	brain
16	chr8:20131000-20136600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:20131200-20134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:20131200-20135400	Enhancers	Fetal Muscle Leg	muscle
19	chr8:20131200-20137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:20131600-20136400	Enhancers	Primary T cells from cord blood	blood
21	chr8:20131800-20133800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:20132000-20133600	Genic enhancers	HSMMtube	muscle
23	chr8:20132000-20134600	Weak transcription	Fetal Lung	lung
24	chr8:20132000-20136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:20132200-20133600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:20132200-20133800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:20132200-20133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:20132200-20133800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:20132200-20134000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr8:20132200-20134200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:20132200-20134200	Weak transcription	Thymus	Thymus
32	chr8:20132200-20134400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:20132200-20135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:20132200-20135200	Weak transcription	Fetal Brain Male	brain
35	chr8:20132200-20138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:20132400-20133400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:20132400-20133800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:20132400-20134800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:20132400-20135000	Weak transcription	HSMM	muscle
40	chr8:20132600-20133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:20132800-20133600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:20132800-20133600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:20132800-20133800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:20132800-20134800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:20132800-20135200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:20132800-20138600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:20133000-20133400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:20133000-20133400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr8:20133000-20133400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:20133000-20133400	Enhancers	Cortex derived primary cultured neurospheres	brain

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